MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4,552Gene
8,700Phänotypen

Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome

ORPHA:436174Kr.
Autosomal recessive

Cataract-hypertrichosis-intellectual disability syndrome

ORPHA:1375Malf.
Autosomal recessive

Cataract-intellectual disability-hypogonadism syndrome

ORPHA:1387Malf.
Autosomal recessive

Cataract-microcornea syndrome

ORPHA:1377Malf.
Autosomal dominant, Autosomal recessive

Cataract-nephropathy-encephalopathy syndrome

ORPHA:1380Malf.
Autosomal recessive

Catastrophic antiphospholipid syndrome

ORPHA:464343Kr.
Not applicable

Catecholaminergic polymorphic ventricular tachycardia

ORPHA:3286Kr.
Autosomal dominant, Autosomal recessive

Catel-Manzke syndrome

ORPHA:1388Malf.
Autosomal recessive

Cathepsin A-related arteriopathy-strokes-leukoencephalopathy

ORPHA:575553Kr.
Autosomal dominant

Caudal appendage-deafness syndrome

ORPHA:1123Malf.

Caudal duplication

ORPHA:1756Malf.
Not applicable

Caudal regression syndrome

ORPHA:3027Malf.
Multigenic/multifactorial, Not applicable

Cavitary myiasis

ORPHA:165958Kr.
Not applicable

Celiac artery compression syndrome

ORPHA:293208Kr.
Not applicable

Celiac disease-epilepsy-cerebral calcification syndrome

ORPHA:1459Kr.
Not applicable

Cenani-Lenz syndrome

ORPHA:3258Malf.
Autosomal recessive

Central areolar choroidal dystrophy

ORPHA:75377Kr.
Autosomal dominant

Central cloudy dystrophy of François

ORPHA:98972Kr.
Autosomal dominant

Central congenital hypothyroidism

ORPHA:226298Kl. gruppe

Central core disease

ORPHA:597Kr.
Autosomal dominant

Central giant cell granuloma

ORPHA:696078Kr.
Not applicable

Central nervous system embryonal tumor

ORPHA:251870Kl. gruppe
Not applicable

Central neurocytoma

ORPHA:73256Kr.
Not applicable

Central retinal artery occlusion

ORPHA:648684Kr.